A fully computational and reasonable representation for karyotypes

Jennifer D. Warrender, Anthony V. Moorman, Phillip Lord

Research output: Contribution to journalArticlepeer-review

Abstract

Summary: The human karyotype has been used as a mechanism for describing and detecting gross abnormalities in the genome for many decades. It is used both for routine diagnostic purposes and for research to further our understanding of the causes of disease. Despite these important applications there has been no rigorous computational representation of the karyotype; rather an informal, string-based representation is used, making it hard to check, organize and search data of this form. In this article, we describe our use of OWL, the Ontology Web Language, to generate a fully computational representation of the karyotype; the development of this ontology represents a significant advance from the traditional bioinformatics use for tagging and navigation and has necessitated the development of a new ontology development environment called Tawny-OWL.

Original languageEnglish (US)
Pages (from-to)5264-5270
Number of pages7
JournalBioinformatics
Volume35
Issue number24
DOIs
StatePublished - Dec 15 2019

ASJC Scopus subject areas

  • Statistics and Probability
  • Biochemistry
  • Molecular Biology
  • Computer Science Applications
  • Computational Theory and Mathematics
  • Computational Mathematics

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